Abstract
.The field of radiogenomics largely focuses on developing imaging surrogates for genomic signatures and integrating imaging, genomic, and molecular data to develop combined personalized biomarkers for characterizing various diseases. Our study aims to highlight the current state-of-the-art and the role of radiogenomics in cancer research, focusing mainly on solid tumors, and is broadly divided into four sections. The first section reviews representative studies that establish the biologic basis of radiomic signatures using gene expression and molecular profiling information. The second section includes studies that aim to non-invasively predict molecular subtypes of tumors using radiomic signatures. The third section reviews studies that evaluate the potential to augment the performance of established prognostic signatures by combining complementary information encoded by radiomic and genomic signatures derived from cancer tumors. The fourth section includes studies that focus on ascertaining the biological significance of radiomic phenotypes. We conclude by discussing current challenges and opportunities in the field, such as the importance of coordination between imaging device manufacturers, regulatory organizations, health care providers, pharmaceutical companies, academic institutions, and physicians for the effective standardization of the results from radiogenomic signatures and for the potential use of these findings to improve precision care for cancer patients.
Highlights
A primary goal toward precision cancer care is the molecular characterization of disease using genomic and proteomic technologies.[1,2] progress is being made, large-scale genomebased cancer characterization is not yet routinely performed for all cancers due to cost, turnaround time, and technical complexity.[3,4,5] molecular profiling is often limited in accuracy due to the heterogeneous nature of cancer
This signature successfully discriminated between EGFRþ and EGFR− cases (AUC 1⁄4 0.69) and between KRASþ and KRAS− cases (AUC 1⁄4 0.63).[15]
Gevaert et al performed a radiogenomics analysis using 180 radiomic features derived from CT and PET/CT scans of 26 NSCLC patients
Summary
A primary goal toward precision cancer care is the molecular characterization of disease using genomic and proteomic technologies.[1,2] progress is being made, large-scale genomebased cancer characterization is not yet routinely performed for all cancers due to cost, turnaround time, and technical complexity.[3,4,5] molecular profiling is often limited in accuracy due to the heterogeneous nature of cancer. Medical imaging enables a non-invasive analysis of the functional and physiological properties of tumors, and the different available modalities are increasingly recognized for containing high-dimensional mineable data, which in turn can be used to improve medical decision making.[9,10] Imaging can help in characterizing peritumoral regions, which are not always surgically removed for molecular characterization[11,12] and may convey information related to the tumor microenvironment.[13,14] For example, imaging characteristics of tumors are increasingly being used to predict gene expression.[15] recent studies show that the molecular mechanisms of cancer are associated with specific imaging phenotypes.[16] medical imaging, earlier used primarily as a diagnostic tool, is emerging as a key player in the field of personalized medicine for cancer by providing prognostic and predictive information.[17]. We review studies representing the state-ofthe-art from these broad themes and conclude with what we believe are the current challenges as well as the opportunities for cancer radiogenomics research
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